Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431180G= , CM000663.2:g.229431180G= | GRCh38 |
| NC_000001.10:g.229566927G= , CM000663.1:g.229566927G= | GRCh37 |
| NC_000001.9:g.227633550G= | NCBI36 |
| NG_006672.1:g.7917C= , LRG_429:g.7917C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684723.1:c.*319C= | ENSP00000508084.1:n.*319C= |